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Enzyme replacement therapy improves cardiac features and severity of Fabry disease

✍ Scribed by Manish Motwani; Sanjay Banypersad; Peter Woolfson; Stephen Waldek


Book ID
118507120
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
284 KB
Volume
107
Category
Article
ISSN
1096-7192

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Fabry disease: enzyme replacement therap
✍ MR Bongiorno; G Pistone; M AricΓ² πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 164 KB

## ABSTRACT Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X‐linked lysosomal storage disorder caused by a deficiency of α‐galactosidaseΒ A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with α‐galacto